L1797P (p.Leu1797Pro) variant of NSD1 (Q96L73)
L1797P (p.Leu1797Pro) in NSD1 (Q96L73) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Sotos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
L1797P (p.Leu1797Pro) variant details
- p.Leu1797Pro
- rs587784144
- ClinGen CA294950
- ClinVar RCV003231265
- Ensembl rs587784144
- Likely pathogenic
- Sotos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.39
- PolyPhen-2 0.70
- SIFT 0.01
- EVE 0.60
- ClinVar: Likely pathogenic (Sotos syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Sotos Syndrome. (PMID 20301652)